| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (45.7%) |
11180245 |
Detailed ultrasonographic findings in Greenberg dysplasia. Madazli R, Aksoy F, Ocak V, Atasu T. Prenat Diagn. 2001;21(1):65-7. |
| Skeletal dysplasia Micromelia | ||
| Adult Bone Diseases, Developmental Bone and Bones Calcinosis Cartilage Females Gestational Age Homo sapiens Hydrops Fetalis Pregnancy Ultrasonography, Prenatal | ||
| 2 (38.6%) |
12210303 |
Greenberg dysplasia (hydrops-ectopic calcification-moth-eaten skeletal dysplasia): prenatal ultrasound diagnosis and review of literature. Trajkovski Z, Vrcakovski M, Saveski J, Gucev ZS. Am J Med Genet. 2002;111(4):415-9. |
| Skeletal dysplasia Severe platyspondyly Depressed nasal bridge | ||
| Adult Bone Diseases, Developmental Calcinosis Females Homo sapiens Hydrops Fetalis Male Oxidoreductase Oxidoreductases Acting on CH-CH Group Donors Polyhydramnios Pregnancy Ultrasonography, Prenatal | ||
| 3 (33.1%) |
8213919 |
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder. Chitayat D, Gruber H, Mullen BJ, Pauzner D, Costa T, Lachman R, Rimoin DL. Am J Med Genet. 1993;47(2):272-7. |
| Platyspondyly Polydactyly | ||
| Bone and Bones Cartilage Congenital Hand Deformities Dwarfism Females Fetal Diseases Genes, Lethal Genes, Recessive Homo sapiens Hydrops Fetalis Lymphangioma, Cystic Male Osteochondrodysplasias Phenotype Polydactyly Pregnancy Scanning Electron Microscopy Syndrome Ultrasonography, Prenatal | ||
| 4 (21.2%) |
18382993 |
Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia. Konstantinidou A, Karadimas C, Waterham HR, Superti-Furga A, Kaminopetros P, Grigoriadou M, Kokotas H, Agrogiannis G, Giannoulia-Karantana A, Patsouris E, Petersen MB. Prenat Diagn. 2008;28(4):309-12. |
| Skeletal dysplasia | ||
| LBR | ||
| p|SUB|N|547|D;RS#:587777171 rs587777171 | ||
| Abortion, Eugenic Adult Bone Diseases, Developmental DNA Mutational Analysis Females Heterotopic Ossification Homo sapiens Hydrops Fetalis Male Pregnancy Pregnancy Trimester, First Receptors, Cytoplasmic and Nuclear Ultrasonography, Prenatal | ||
| 4 (21.2%) |
11113916 |
Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity. Horn LC, Faber R, Meiner A, Piskazeck U, Spranger J. Prenat Diagn. 2000;20(12):1008-11. |
| Splenomegaly Skeletal dysplasia | ||
| Calcinosis Females Homo sapiens Hydrops Fetalis Osteochondrodysplasias Pregnancy Ultrasonography, Prenatal | ||
| 6 (4.0%) |
15580635 |
Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review. Rossi M, Vajro P, Iorio R, Battagliese A, Brunetti-Pierri N, Corso G, Di Rocco M, Ferrari P, Rivasi F, Vecchione R, Andria G, Parenti G. Am J Med Genet A. 2005;132A(2):144-51. |
| Hepatic fibrosis | ||
| Child Child, Preschool Females Fibrosis Follow-Up Studies Homo sapiens Infant Liver Male Mutation Oxidoreductases Acting on CH-CH Group Donors Smith-Lemli-Opitz Syndrome Time Factors |
Total: 18
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000926 | Platyspondyly | Very frequent (99-80%) |
| HP:0001004 | Lymphedema | Very frequent (99-80%) |
| HP:0001156 | Brachydactyly | Very frequent (99-80%) |
| HP:0001881 | Abnormal leukocyte morphology | Very frequent (99-80%) |
| HP:0002983 | Micromelia | Very frequent (99-80%) |
| HP:0003312 | Abnormal form of the vertebral bodies | Very frequent (99-80%) |
| HP:0006619 | Anterior rib punctate calcifications | Very frequent (99-80%) |
| HP:0008890 | Severe short-limb dwarfism | Very frequent (99-80%) |
| HP:0008905 | Rhizomelia | Very frequent (99-80%) |
| HP:0009106 | Abnormal pelvis bone ossification | Very frequent (99-80%) |
| HP:0011849 | Abnormal bone ossification | Very frequent (99-80%) |
| HP:0100569 | Abnormally ossified vertebrae | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Frequent (79-30%) |
| HP:0000774 | Narrow chest | Frequent (79-30%) |
| HP:0001362 | Calvarial skull defect | Frequent (79-30%) |
| HP:0004331 | Decreased skull ossification | Frequent (79-30%) |
| HP:0011800 | Midface retrusion | Frequent (79-30%) |
| HP:0100602 | Preeclampsia | Frequent (79-30%) |
Total: 4
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002652 | Skeletal dysplasia | 3 |
| HP:0010766 | Ectopic calcification | 2 |
| HP:0001396 | Cholestasis | 1 |
| HP:0010442 | Polydactyly | 1 |